Renal amyloidosis associated with a novel sequence variant of gelsolin

Sanjeev Sethi, Jason D. Theis, Patrick Quint, William Maierhofer, Paul J. Kurtin, Ahmet Dogan, Edward W. Highsmith

Research output: Contribution to journalArticlepeer-review

34 Scopus citations

Abstract

We present a case of a 75-year-old woman who presented with progressive kidney failure. Kidney biopsy performed to determine the cause of kidney failure showed amyloidosis of undetermined type. Laser microdissection of the Congo Red-positive glomeruli followed by mass spectrometry studies showed a large number of spectra matching apolipoprotein E, serum amyloid P component, and gelsolin, consistent with a diagnosis of gelsolin-associated renal amyloidosis. Sequencing of the gelsolin gene revealed a previously undescribed sequence variant, a guanine to adenine substitution at nucleotide 580 of the coding sequence, corresponding to a predicted glycine to arginine mutation at amino acid 194. Gelsolin amyloidosis typically involves the nerves and skin, with only rare reported involvement of the kidney. An atypical finding on electron microscopy was that of a swirling pattern of the amyloid fibrils. The novel gelsolin variant may be responsible for the unusual clinical and pathologic presentation. The report also highlights the usefulness of laser microdissection and mass spectrometry in the typing of difficult cases of amyloidosis.

Original languageEnglish (US)
Pages (from-to)161-166
Number of pages6
JournalAmerican Journal of Kidney Diseases
Volume61
Issue number1
DOIs
StatePublished - Jan 1 2013

Keywords

  • Amyloidosis
  • gelsolin amyloidosis
  • gelsolin mutation
  • mass spectrometry
  • proteomics

ASJC Scopus subject areas

  • Nephrology

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